Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening

Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis...

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Detalhes bibliográficos
Main Authors: Hoffman, Jodi D, Greger, Valerie, Strovel, Erin T, Blitzer, Miriam G, Umbarger, Mark A, Kennedy, Caleb, Bishop, Brian, Saunders, Patrick, Porreca, Gregory J, Schienda, Jaclyn, Davie, Jocelyn, Hallam, Stephanie, Towne, Charles
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865593/
https://ncbi.nlm.nih.gov/pubmed/24498621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.37
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